Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.E721fs
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GAA

NM_000152.5:p.E721fs

Associated Papers

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.

Tortorelli S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."